Linked Data
ClinVar Variation Id:
516368
dbSNP Id:
rs146888744
ExAC:
4:52899591 A / T
gnomAD v2:
4-52899591-A-T
gnomAD v3:
4-52033425-A-T
gnomAD v4:
4-52033425-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033425A>T , CM000666.2:g.52033425A>T | GRCh38 |
| NC_000004.11:g.52899591A>T , CM000666.1:g.52899591A>T | GRCh37 |
| NC_000004.10:g.52594348A>T | NCBI36 |
| NG_008891.1:g.9895T>A , LRG_204:g.9895T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.243+6T>A MANE Select | ENSP00000370839.6:n.243+6T>A | |
| ENST00000381431.9:c.243+6T>A | ENSP00000370839.5:n.243+6T>A | |
| ENST00000506357.5:c.229+6T>A | ||
| ENST00000514133.1:c.210+6T>A | ENSP00000425818.1:n.210+6T>A | |
| NM_000232.4:c.243+6T>A , LRG_204t1:c.243+6T>A | NP_000223.1:n.243+6T>A | |
| XM_006714049.2:c.-165+6T>A | XP_006714112.1:n.-165+6T>A | |
| XM_011534403.1:c.34-3562T>A | XP_011532705.1:n.34-3562T>A | |
| XM_011534404.1:c.-142+6T>A | XP_011532706.1:n.-142+6T>A | |
| NM_000232.5:c.243+6T>A MANE Select | NP_000223.1:n.243+6T>A |